M. Osborn - Concepedia

Author

M. Osborn

University of Wales

Also Known As

M J Osborn, M Osborn, M. Osborn, M.J. Osborn, Mike Osborn

Publications

670

Citations

H-Index

Concepts

All Affiliations

University of Wales Southmead Hospital

About

M. Osborn is an author at University of Wales specializing in medicine, genetics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	267
2	Natural Sciences	1	1	10
3	Public Health	1	1	28
4	Biochemistry	1	1	10
5	Biology	1	1	10

M. Osborn

Publications

601

Citations

H-Index

Page 1

	Year	Citations
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Peter Lunt, Philip Jardine, Manuela C. Koch, Human Molecular Genetics	1995	208
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay Meena Upadhyaya, Martino Ruggieri, Julie Maynard, Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine	1998	176
D4F104S1 deletion in facioscapulohumeral muscular dystrophy Richard J.L.F. Lemmers, M. Osborn, Thomas Haaf, Neurology	2003	82
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. Meena Upadhyaya, Julie Maynard, M. Osborn, Journal of Medical Genetics	1995	44
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations M. Osborn, Meena Upadhyaya Human Genetics Protein Truncation TestGenetic DisorderMedicineGeneticsMutation Detection	1999	41
Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene Meena Upadhyaya, M. Osborn, Julie Maynard, American Journal of Medical Genetics Nf1 IndividualsGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	1996	28
Molecular analysis of the 5′‐flanking region of the neurofibromatosis type 1 (<i>NF1</i>) gene: identification of five sequence variants M. Osborn, D.N. Cooper, Meena Upadhyaya Clinical Genetics 5′‐Flanking RegionNeurogenomicsGeneticsGenetic EpidemiologyPathology	2000	12
Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. Linda Tyfield, M. Osborn, J. B. Holton Journal of Medical Genetics Phenylalanine Hydroxylase LocusGeneticsMolecular GeneticsMolecular HeterogeneityGenetic Analysis	1991	10

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